What is exon 20 mutation?

What is exon 20 mutation?

Abstract. Background: Epidermal growth factor receptor gene (EGFR) exon 20 insertion (ex20-ins) mutations are an uncommon and heterogeneous group of non-small cell lung cancers (NSCLCs), resistant to conventional EGFR tyrosine kinase inhibitors (TKIs).

What is exon 20 lung cancer?

Approximately 2% to 3% of patients with non-small cell lung cancer will have EGFR exon 20 insertion mutations, which are a group of mutations on a protein that causes rapid cell growth, and consequently, helps cancer spread. EGFR exon 20 insertion mutations are the third most common type of EGFR mutation.

What does EGFR exon 19 deletion mean?

Abstract. Epidermal growth factor receptor (EGFR) exon 19 deletion (E19del) is the most common activating mutation in advanced non–small cell lung cancer (NSCLC) and associates with the sensitivity of EGFR tyrosine kinase inhibitors (TKIs) treatment.

What is EGFR exon 21 mutation?

Mutations of epithelial growth factor receptor (EGFR) in exon 19 and 21 are both believed to be associated with carcinogenesis, sensitivity to tyrosine kinase drugs and with the prognosis of non-small cell lung cancers (NSCLCs). However, their exact clinical significance remains disputable.

What causes EGFR exon 20?

The exon 20 insertion mutation is a specific type of mutation in the EGFR gene. In this type, a bit of genetic material is inserted accidentally into a specific region of the gene called the exon 20.

What are EGFR exon 20 insertions?

EGFR exon 20 insertion mutations are heterogeneous at the molecular level but can be characterized as inframe insertions or duplications of between 3 and 21 bp (corresponding to 1 to 7 amino acids) clustered between amino acid positions 762 and 774 of the EGFR protein.

How many exons are in EGFR?

EGFR is composed of 28 exons and encodes a protein of 1210 amino acids (ENST00000275493, Ensembl v69) [Article:11752248]. Multiple alternatively spliced transcript variants that encode different protein isoforms have been found [Article:16925834].

What happens if EGFR is mutated?

EGFR (epidermal growth factor receptor) is a protein on cells that helps them grow. A mutation in the gene for EGFR can make it grow too much, which can cause cancer.

What is Tagrisso?

This medication is used to treat lung cancer. Osimertinib belongs to a class of drugs known as kinase inhibitors. It works by slowing or stopping the growth of cancer cells. It binds to a certain protein (epidermal growth factor receptor-EGFR) in some tumors.

What is EGFR mutation?

An EGFR mutation refers to a change (damage) to the portion of the DNA in a cell which carries the “recipe” for making EGFR (epidermal growth factor receptor) proteins.

Can insertion mutation be treated?

Clinical Trials Scientists are actively working to find therapies to treat people with the EGFR exon 20 insertion mutation more effectively. The hope for the future is that more targeted therapies will be found to treat people with this and other mutations.

Is Poziotinib FDA approved?

FDA grants fast track status for targeted treatment poziotinib. The FDA has granted fast track status for the targeted treatment poziotinib, which is used to treat patients with non-small cell lung cancer (NSCLC) HER2 exon 20 mutations.

What does EGFR exon 20 mutation mean?

A molecular genetic abnormality indicating the presence of a mutation in exon 20 of the EGFR gene. EGFR Exon 20 Mutation MedGen UID: 927187 •Concept ID:

Are tyrosine kinase inhibitors effective against non–small-cell lung cancer with EGFR exon 20 mutations?

Non–small-cell lung cancer (NSCLC) with epidermal growth factor receptor ( EGFR) exon 20 insertion (Exon20ins) mutations exhibits inherent resistance to approved tyrosine kinase inhibitors.

Are all patients with EGFR exon20ins enrolled on the Chrysalis study?

The analysis presented here does not include the full enrollment of the EGFR Exon20ins population, but represents a subset of patients without standard of care and with sufficient follow-up to support regulatory review. As such, it includes all postplatinum patients with EGFR Exon20ins enrolled on the CHRYSALIS study, through the clinical cutoff.

What does EGFR-MET stand for?

To determine the recommended phase II dose of amivantamab, a novel epidermal growth factor receptor (EGFR)-MET bispecific antibody, and its antitumor activity in patients with EGFR exon 20 insertion (Exon20ins)–mutated non–small-cell lung cancer whose disease had progressed on platinum-based chemotherapy.